The following is a summary of “Role of Genetic Testing in Adult CKD,” published in the May 2024 issue of Nephrology by Knoers et al.
There is significant evidence that suggests chronic kidney disease (CKD) majorly stems from monogenic disorders. Recent advancements in genetic testing have greatly improved diagnostic accuracy, aiding in personalized treatment and family planning.
Researchers conducted a retrospective study, drawing on recent research and patient cases, to encourage nephrologists to use genetic testing more extensively in diagnosing CKD.
They analyzed the benefits and methods of genetic testing in CKD diagnosis, focusing on patient selection, test types, and results interpretation. They also emphasized the importance of genetic counseling before and after testing.
The results showed that genetic testing identifies disease-causing variants in patients with CKD, aiding prognosis and personalized care. Despite its proven clinical value and cost-effectiveness when employed early in diagnosis, many nephrologists need genetic testing due to perceived barriers.
Investigators concluded that nephrologists should leverage genetic testing’s clinical benefits for patients with CKD, guided by recent insights and patient stories. They emphasized its importance in family screening and transplant decisions, offering practical recommendations and stressing the need for genetic counseling.
Source: journals.lww.com/jasn/abstract/9900/the_role_of_genetic_testing_in_adult_ckd.311.aspx